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ORIGINAL BREVE
Hipoaldosteronismo primario e hipoacusia bilateral moderada en un niño con una mutación sin sentido en homocigosis (Thr318Met) en el gen CYP11B2
Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene
O. Rubio-Cabezasa,b,c, L. Reguerasa, M.T. Muñoz-Calvoa,b,c, M. Bartoloméd, J. Pozoa,b,c, J. Argentea,b,c,
a Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, España
b Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, España
c CIBER Fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto Carlos III, Madrid, España
d Sección de Otorrinolaringología, Hospital Infantil Universitario Niño Jesús, Madrid, España
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ISSN: 16954033
Original language: Spanish
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